Canonical Allele Identifier: CA412941470

Gene: WDR45

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.49074881A>C , CM000685.2:g.49074881A>C	GRCh38
NC_000023.10:g.48932540A>C , CM000685.1:g.48932540A>C	GRCh37
NC_000023.9:g.48819484A>C	NCBI36
NG_033004.1:g.30520T>G
NG_033004.2:g.31290T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001029896.2:c.1005T>G MANE Select	NP_001025067.1:p.Tyr335Ter
ENST00000376372.9:c.1005T>G MANE Select	ENSP00000365551.3:p.Tyr335Ter
NM_001029896.1:c.1005T>G	NP_001025067.1:p.Tyr335Ter
NM_007075.3:c.1008T>G	NP_009006.2:p.Tyr336Ter
NM_007075.4:c.1008T>G	NP_009006.2:p.Tyr336Ter
ENST00000322995.13:c.1038T>G	ENSP00000365543.5:p.Tyr346Ter
ENST00000356463.7:c.1008T>G	ENSP00000348848.3:p.Tyr336Ter
ENST00000367375.8:c.784T>G
ENST00000376358.4:c.521+483T>G	ENSP00000365536.3:n.521+483T>G
ENST00000376368.7:c.1008T>G	ENSP00000365546.2:p.Tyr336Ter
ENST00000376372.8:c.1005T>G	ENSP00000365551.3:p.Tyr335Ter
ENST00000396681.9:c.888T>G	ENSP00000379913.5:p.Tyr296Ter
ENST00000433252.7:n.884T>G
ENST00000465806.6:n.2162T>G
ENST00000473974.5:c.757T>G	ENSP00000417211.1:p.Cys253Gly
ENST00000475977.2:c.355T>G	ENSP00000417754.2:p.Cys119Gly
ENST00000485908.6:c.900T>G	ENSP00000419897.1:p.Tyr300Ter
ENST00000486337.6:c.181T>G
ENST00000634559.1:c.792T>G	ENSP00000488986.1:p.Tyr264Ter
ENST00000634838.1:c.963T>G	ENSP00000489268.1:p.Tyr321Ter
ENST00000634852.1:n.702T>G
ENST00000634944.1:c.1005T>G	ENSP00000488972.1:p.Tyr335Ter
ENST00000635003.1:c.804T>G	ENSP00000489080.1:p.Tyr268Ter